Table 2.
Comparison of Demographic, Clinical, and Radiological profiles with other cerebrotendinous xanthomatosis series.
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|---|---|---|---|---|---|---|---|---|---|
| OUR COHORT | DUELL ET AL (2018) [2] | SEKIJIMA ET AL (2018) [3] | MIGNARRI ET AL (2014) [4] | PILO DE LA FUENTE ET AL (2011) [5] | LEE ET AL (2001) [6] | VERRIPS ET AL (2000) [7] | BERGINER ET AL (1984) [8] | STELTEN ET AL (2019) [9] | |
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| Number of patients | 5 (1F, 4M) | 43 | 40 (20M, 20F) | 55 (28F, 27M) | 25 (15F,10M) | 19 (12F,7M) | 54 | 17 (12F, 5M) | 62 (29F/30M) |
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| Age at onset (years) | 19.2 ± 16.14 | 32 | 24.5 ± 13.6 | 9.5 ± 9 | 19.2 ± 11.2 | Not reported | 14 ± 11.6 | Not reported | Not reported |
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| Age at Diagnosis (Years) | 36.2 ± 18.3 | Not reported | 41 ± 11.6 | 35.5 ± 11.8 | 38 ± 10.7 | Not reported | 33.5 ± 10.9 | Not reported | 35 ± 11 |
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| Consanguineous parents | 1/5 (20%) | Not reported | 7/40 (17.5%) | 13/39 (33%) | Not reported | 0/12 (0%) | 2/32 (6%) | Not reported | Not reported |
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| Tendon Xanthomas | 5/5 (100%) | 33/43 (77%) | 38/40 (95%) | 43/55 (78%) | 14/25 (56%) | 19/19 (100%) | 27/54 (50%) | 15/17 (88%) | 47 (76%) |
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| Cataract | 5/5 (100%) | 30/43 (70%) | 24/40 (60%) | 49/55 (89%) | 23/25 (92%) | 14/19 (74%) | 52/54 (96%) | 12/17 (71%) | 51 (82%) |
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| Chronic Diarrhea | 0/5 (0%) | 23/43 (53%) | 8/40 (20%) | 22/55 (40%) | 23/25 (92%) | Not reported | 19/54 (35%) | Not reported | 19 (31%) |
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| Neonatal Jaundice | 0/5 (0%) | Not reported | Not reported | 8/55 (15%) | Not reported | Not reported | Not reported | Not reported | Not reported |
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| ID/Cognitive impairment | 2/5 (40%) | 32/43 (74%) | 28/40 (70%) | 33/55 (60%) | 12/25 (48%) | Not reported | 33/54 (61%) | Not reported | 54 (87%) |
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| Behavioral Disturbances | 0/5 (0%) | Not reported | Not reported | 24/55 (44%) | 14/25 (56%) | Not reported | Not reported | Not reported | 23 (37%) |
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| Epilepsy | 2/5 (40%) | Not reported | 4/40 (10%) | 18/55 (33%) | 8/25 (32%) | Not reported | 14/54 (26%) | Not reported | 18 (29%) |
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| Pyramidal signs | 5/5 (100%) | Not reported | 26/40 (65%) | 35/55 (64%) | 23/25 (92%) | 17/19(89%) | 39/54 (72%) | 17/17 (100%) | 46 (74%) |
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| Cerebellar signs | 4/5 (80%) | Not reported | 17/40 (42.5%) | 20/55 (36%) | 20/24 (83%) | 17/19(89%) | 35/54 (65%) | 13/17 (76%) | 42 (68%) |
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| Parkinsonism | 1/5 (20%) | Not reported | 8/40 (20%)* | 5/55 (9%) | Not reported | Not reported | Not reported | Not reported | 32 (52%)@ |
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| Polyneuropathy | 1/5 (20%) | Not reported | 5/40 (12.5%) | 21/30 (70%) | 12/18 (67%) | 12/19 (63%) | 19/24 (79%) | 7/17 (41%) | 28 (45%) |
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| MRI-Dentate involvement | 3/5 (60%) | Not reported | 25/40 (62.5%) | 20/26 (77%) | 14/23 (61%) | Not reported | 28/34 (82%) | Not reported | 38/47 (81%) |
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| High Serum Cholestanol | Not Done | 43/43 (100%) | 40/40 (100%) | 37/37 (100%) | 14/14 (100%) | 19/19 (100%) | 43/43 (100%) | 17/17 (100%) | Not reported |
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F: Female; ID: Intellectual disability; M: Male; MRI: Magnetic resonance imaging.
*: Parkinsonism/dystonia.
@: Dystonia-19 (31%), myoclonus-11 (18%), tremor-6 (10%), unspecified extrapyramidal signs-10 (16%).